FB2026_02 , released June 18, 2026
Allele: Dmel\TorsinE177Q.UAS
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General Information
Symbol
Dmel\TorsinE177Q.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0294084
Feature type
allele
Associated gene
Dmel\Torsin
Associated Insertion(s)
Carried in Construct
P{UAS-Torsin.E177Q}
Key Links
Transgenic product class
missense_variant
(Jokhi et al., 2013)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Jokhi et al., 2013)
Mutagen
in vitro construct
(Jokhi et al., 2013)
Progenitor genotype
Carried in construct
P{UAS-Torsin.E177Q}
Cytology
Description

UAS regulatory sequences drive expression of Torsin containing the amino acid replacement E177Q.

(Jokhi et al., 2013)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Torsin
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Variant Molecular Consequences
Associated Sequence Data
DDBJ / EMBL / GenBank
DNA sequence
Protein sequence
 
UniProtKB/Swiss-Prot
    UniProtKB/TrEMBL
      Expression Data
      Reporter Expression
      Additional Information
      Statement
      Reference
       
      Marker for
      Reflects expression of
      Reporter construct used in assay
      Human Disease Associations
      Disease Ontology (DO) Annotations
      Models Based on Experimental Evidence ( 0 )
      Disease
      Evidence
      References
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Muscles expressing TorsinE177Q.Scer\UAS under the control of Scer\GAL4C57 have large ribonucleoprotein (megaRNP) granules which are either tethered to the inner nuclear membrane or appear as large amorphous, dense structures directly apposed to the inner nuclear membrane (approximately 30% of cases).

      The number of normal synaptic boutons at the neuromuscular junction is significantly reduced compared to wild type in third instar larvae expressing TorsinE177Q.Scer\UAS under the control of Scer\GAL4C57, while the number of undifferentiated 'ghost' boutons is significantly increased.

      (Jokhi et al., 2013)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (3)
      Reported As
      Symbol Synonym
      TorsinE->Q
      (Jokhi et al., 2013)
      TorsinE177Q.Scer\UAS
      TorsinE177Q.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (1)